Canonical Allele Identifier: CA400967997
Gene: USH1G HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72919044T>C (hg19) chr17:g.74922949T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74922949T>C , CM000679.2:g.74922949T>C GRCh38
NC_000017.10:g.72919044T>C , CM000679.1:g.72919044T>C GRCh37
NC_000017.9:g.70430639T>C NCBI36
NG_007882.1:g.5308A>G
NG_033062.1:g.3675T>C
NG_007882.2:g.5315A>G
NG_033062.2:g.3675T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.125A>G MANE Select ENSP00000480279.1:p.His42Arg
ENST00000579243.1:c.125A>G ENSP00000462568.1:p.His42Arg
ENST00000614341.4:c.125A>G ENSP00000480279.1:p.His42Arg
NM_001282489.2:c.-132A>G NP_001269418.1:n.-132A>G
NM_173477.4:c.125A>G NP_775748.2:p.His42Arg
NM_173477.5:c.125A>G MANE Select NP_775748.2:p.His42Arg
NM_001282489.3:c.-132A>G NP_001269418.1:n.-132A>G
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